Frameshift variant FANCL *c.1096_1099dupATTA is not associated with high breast cancer risk

2016 ◽  
Vol 90 (4) ◽  
pp. 385-386 ◽  
Author(s):  
K. Pfeifer ◽  
P. Schürmann ◽  
N. Bogdanova ◽  
K. Neuhäuser ◽  
I. Maleva Kostovska ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
High Breast Cancer Risk

scholarly journals Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy

Cancers ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 532
Author(s):  
Gisella Figlioli ◽  
Arcangela De Nicolo ◽  
Irene Catucci ◽  
Siranoush Manoukian ◽  
Bernard Peissel ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Disease Risk ◽  
Northern Italy ◽  
Genetic Isolate ◽  
National Population ◽  
Pathogenic Variants ◽  
High Breast Cancer Risk

Germline pathogenic variants (PVs) in the BRCA1 or BRCA2 genes cause high breast cancer risk. Recurrent or founder PVs have been described worldwide including some in the Bergamo province in Northern Italy. The aim of this study was to compare the BRCA1/2 PV spectra of the Bergamo and of the general Italian populations. We retrospectively identified at five Italian centers 1019 BRCA1/2 PVs carrier individuals affected with breast cancer and representative of the heterogeneous national population. Each individual was assigned to the Bergamo or non-Bergamo cohort based on self-reported birthplace. Our data indicate that the Bergamo BRCA1/2 PV spectrum shows less heterogeneity with fewer different variants and an average higher frequency compared to that of the rest of Italy. Consistently, four PVs explained about 60% of all carriers. The majority of the Bergamo PVs originated locally with only two PVs clearly imported. The Bergamo BRCA1/2 PV spectrum appears to be private. Hence, the Bergamo population would be ideal to study the disease risk associated with local PVs in breast cancer and other disease-causing genes. Finally, our data suggest that the Bergamo population is a genetic isolate and further analyses are warranted to prove this notion.

scholarly journals Evaluation of 3.0-T MRI Brain Signal after Exposure to Gadoterate Meglumine in Women with High Breast Cancer Risk and Screening Breast MRI

Radiology ◽  
2019 ◽  
Vol 293 (3) ◽  
pp. 523-530 ◽  
Author(s):  
Barbara Bennani-Baiti ◽  
Barbara Krug ◽  
Daniel Giese ◽  
Martin Hellmich ◽  
Sophie Bartsch ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Breast Mri ◽  
Mri Brain ◽  
Gadoterate Meglumine ◽  
3.0 T ◽  
High Breast Cancer Risk ◽  
3.0 T Mri

Identification of factors associated with high breast cancer risk in the mothers of children with soft tissue sarcoma.

1990 ◽  
Vol 8 (4) ◽  
pp. 583-590 ◽  
Author(s):  
J M Birch ◽  
A L Hartley ◽  
V Blair ◽  
A M Kelsey ◽  
M Harris ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Soft Tissue ◽  
Breast Cancer Risk ◽  
Soft Tissue Sarcoma ◽  
Cancer Risk ◽  
Cancer Genetics ◽  
Age At First Birth ◽  
Index Child ◽  
High Breast Cancer Risk ◽  
Age At Birth

Information on the past medical history of the mothers of a population-based series of 177 children with soft tissue sarcoma was obtained by interview and from medical records. Eight mothers developed breast cancer, six premenopausally, compared with 3.26 expected (P = .04), but no excess of other types of cancers was detected. High breast cancer risk was associated with the following factors in the index child: age at diagnosis less than 24 months (relative risk [RR], 7.84), embryonal rhabdomyosarcoma (RR, 3.74), and male sex (RR, 3.02). Characteristics in the mother associated with high breast cancer risk were the following: late age at first birth (RR, 5.13), late age at birth of index child (RR, 5.69), and high birth-rank order of index child (RR, 4.08). The results suggest there may be a subset of childhood soft tissue sarcoma with a predominantly genetic etiology. The association between premenopausal breast cancer in the mother, late age at birth of index child, and early onset of soft tissue sarcoma in the index child suggests that these three events are not independent and that interactions between genetic and other factors may be important. The identification of a group of women at high risk for breast cancer affords an opportunity for screening and early detection. The study of cancer family syndromes may provide insights into underlying mechanisms in cancer genetics.

Prophylactic mastectomy in women at high breast cancer risk. Are pathology results convincing?

2006 ◽  
Vol 4 (2) ◽  
pp. 69
Author(s):  
K. Leunen ◽  
Neven ◽  
M.R. Christiaens ◽  
M. Drijkoningen ◽  
E. Legius ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Prophylactic Mastectomy ◽  
High Breast Cancer Risk

Abstract A75: DNA repair genotypes associated with benign breast disease in women at high breast cancer risk

2008 ◽  
Author(s):  
Timothy Jorgensen ◽  
Kathy Helzlsouer ◽  
Sandra Hoffman ◽  
Judith Hoffman-Bolton ◽  
Rosa Crum ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Repair ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Benign Breast Disease ◽  
Breast Disease ◽  
High Breast Cancer Risk

Long-term outcomes of bilateral direct-to-implant breast reconstruction in women at high breast cancer risk

2018 ◽  
Vol 52 (4) ◽  
pp. 245-252 ◽  
Author(s):  
Victorien M. T. van Verschuer ◽  
Marc A. M. Mureau ◽  
Bernadette A. M. Heemskerk-Gerritsen ◽  
Pravesh S. Gadjradj ◽  
Cleo Rogier ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Breast Reconstruction ◽  
Long Term Outcomes ◽  
High Breast Cancer Risk ◽  
Implant Breast Reconstruction

PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk

2019 ◽  
Vol 64 (8) ◽  
pp. 767-773 ◽  
Author(s):  
Andromachi Vagena ◽  
Myrto Papamentzelopoulou ◽  
Despoina Kalfakakou ◽  
Panagoula Kollia ◽  
Christos Papadimitriou ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
High Breast Cancer Risk
Sign in / Sign up

Export Citation Format

Share Document